Aortopathy in Relatives of Patients With Bicuspid Valves

Study Questions:

How often do patients with a bicuspid aortic valve (BAV) have first-degree relatives (FDRs) with BAV and aortic dilatation?


This study examined 57 BAV patients and 54 healthy volunteers from a prior study and 142 FDRs of BAV patients, and performed cardiac magnetic resonance (CMR) imaging (n = 117) or echocardiography (n = 25) for assessment of the aortic valve morphology; patients with CMR also had aortic size and distensibility assessed.


Among 142 FDRs, a BAV was seen in 17 patients (12%) spread over 10 families (18% of families). Concordant pattern of cusp fusion was seen in only five families, with right-left fusion seen in 77% and right-noncoronary fusion seen in 19%. No patients had aortic root dilatation. Index BAV patients had ascending aortic dilatation in 16 cases (28%), while five cases (33%) of FDRs with BAV had ascending aortic dilatation. No FDR with a tricuspid aortic valve had aortic dilatation. Aortic distensibility was similar between controls and FDRs.


FDRs of patients with BAV had a 12% rate of BAV in this study, and the rate of aortic dilatation was similar between index BAV patients and FDRs with BAV.


This study finds that the rate of BAV among FDRs of index cases is approximately 12%, similar to prior echo studies. Further, approximately one third of index BAV cases and FDRs with BAV had ascending aortic dilatation. These findings suggest that it may be useful to consider screening FDRs of all patients with BAV, regardless of the presence of aortic dilatation. The absence of aortic dilatation in any FDR with a tricuspid aortic valve suggests that further screening may not be needed in these patients.

Clinical Topics: Congenital Heart Disease and Pediatric Cardiology, Noninvasive Imaging, Valvular Heart Disease, Vascular Medicine, Congenital Heart Disease, CHD and Pediatrics and Imaging, Echocardiography/Ultrasound

Keywords: Aortic Diseases, Aortic Valve, Bicuspid, Diagnostic Imaging, Dilatation, Echocardiography, Heart Defects, Congenital, Heart Valve Diseases, Magnetic Resonance Spectroscopy

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